POLR2F

Chr 22

RNA polymerase II, I and III subunit F

Also known as: HRBP14.4, POLRF, RPABC14.4, RPABC2, RPB14.4, RPB6, RPC15

NCBI Gene: 5435ENSG00000100142UniProt: P61218

This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

623
ClinVar variants
129
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— POLR2F
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
129 Pathogenic / Likely Pathogenic· 143 VUS of 623 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.88LOEUF
pLI 0.013
Z-score 1.87
OE 0.42 (0.22–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.89Z-score
OE missense 0.73 (0.59–0.90)
61 obs / 83.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.42 (0.22–0.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.73 (0.59–0.90)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
0≤1.21.6
LoF obs/exp: 5 / 12.0Missense obs/exp: 61 / 83.8Syn Z: 0.46

ClinVar Variant Classifications

623 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic54
VUS143
Likely Benign77
Benign13
Conflicting19
75
Pathogenic
54
Likely Pathogenic
143
VUS
77
Likely Benign
13
Benign
19
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
48
9
18
0
75
Likely Pathogenic
25
19
10
0
54
VUS
3
128
9
3
143
Likely Benign
0
6
12
59
77
Benign
0
4
9
0
13
Conflicting
—19
Total761665862381

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

POLR2F · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Chronic kidney disease onset, progression, and cardiovascular outcomes: proteomics informs biology and risk stratification.
Zhang J et al.·Cardiovasc Diabetol
2026
Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.
Armstrong NJ et al.·Stroke
2020Meta-analysis
Purine metabolism-related genes and immunization in thyroid eye disease were validated using bioinformatics and machine learning.
Wu Z et al.·Sci Rep
2023
Two miRNA prognostic signatures of head and neck squamous cell carcinoma: A bioinformatic analysis based on the TCGA dataset.
Wu C et al.·Cancer Med
2020
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I et al.·Hum Genet
2021
Predicting the influence of homologous recombination repair deficiency genes on glioma heterogeneity and patient prognosis using multi-omics analysis and machine learning.
Wu X et al.·PLoS One
2025
[Novel complexes of gene expression and their role in the appearance and evolution of the genus Homo].
Shematorova EK et al.·Tsitologiia
2013
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools